Incidental Mutation 'R0658:Tshr'
ID |
62624 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tshr
|
Ensembl Gene |
ENSMUSG00000020963 |
Gene Name |
thyroid stimulating hormone receptor |
Synonyms |
hypothroid, pet, hyt |
MMRRC Submission |
038843-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R0658 (G1)
|
Quality Score |
110 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 91505000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 54
(S54*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021346]
[ENSMUST00000186437]
[ENSMUST00000221216]
|
AlphaFold |
P47750 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021346
AA Change: S646*
|
SMART Domains |
Protein: ENSMUSP00000021346 Gene: ENSMUSG00000020963 AA Change: S646*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:LRR_5
|
53 |
153 |
9.5e-7 |
PFAM |
Pfam:LRR_5
|
148 |
244 |
5.1e-5 |
PFAM |
Pfam:7tm_1
|
431 |
678 |
2.6e-30 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186437
AA Change: S54*
|
SMART Domains |
Protein: ENSMUSP00000139632 Gene: ENSMUSG00000020963 AA Change: S54*
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
1 |
86 |
6.4e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221216
|
Meta Mutation Damage Score |
0.9717 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
99% (78/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] PHENOTYPE: Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
C |
T |
5: 100,965,827 (GRCm39) |
|
probably null |
Het |
Acsl3 |
A |
G |
1: 78,679,004 (GRCm39) |
D520G |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,796,560 (GRCm39) |
V623A |
probably benign |
Het |
Ak9 |
G |
T |
10: 41,223,218 (GRCm39) |
V454L |
probably damaging |
Het |
Alpk2 |
C |
A |
18: 65,482,558 (GRCm39) |
K483N |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,893,281 (GRCm39) |
Y974C |
probably damaging |
Het |
Armc8 |
C |
T |
9: 99,418,211 (GRCm39) |
|
probably benign |
Het |
Atp2a2 |
C |
T |
5: 122,595,696 (GRCm39) |
|
probably benign |
Het |
Atrn |
T |
C |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
Caps2 |
T |
A |
10: 112,039,943 (GRCm39) |
|
probably benign |
Het |
Cep76 |
A |
G |
18: 67,756,374 (GRCm39) |
S486P |
probably damaging |
Het |
Cep97 |
C |
T |
16: 55,735,265 (GRCm39) |
R583H |
probably benign |
Het |
Cog7 |
A |
G |
7: 121,555,363 (GRCm39) |
|
probably benign |
Het |
Commd5 |
T |
A |
15: 76,784,768 (GRCm39) |
V55E |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,874,543 (GRCm39) |
D684E |
possibly damaging |
Het |
Ctxn2 |
T |
C |
2: 124,989,376 (GRCm39) |
M1T |
probably null |
Het |
Exph5 |
A |
G |
9: 53,288,775 (GRCm39) |
D1952G |
unknown |
Het |
Fmo2 |
A |
T |
1: 162,704,343 (GRCm39) |
L521Q |
possibly damaging |
Het |
Fryl |
T |
A |
5: 73,222,702 (GRCm39) |
T1960S |
probably damaging |
Het |
G6pd2 |
T |
C |
5: 61,967,017 (GRCm39) |
L264P |
probably damaging |
Het |
Gne |
A |
T |
4: 44,039,033 (GRCm39) |
V647E |
possibly damaging |
Het |
Grb14 |
G |
A |
2: 64,745,071 (GRCm39) |
Q96* |
probably null |
Het |
Gtf3c1 |
A |
G |
7: 125,298,134 (GRCm39) |
F146L |
probably damaging |
Het |
Gvin3 |
C |
A |
7: 106,202,093 (GRCm39) |
V384L |
possibly damaging |
Het |
Irak2 |
A |
G |
6: 113,615,525 (GRCm39) |
Y6C |
probably damaging |
Het |
Kel |
T |
A |
6: 41,679,965 (GRCm39) |
N75I |
probably damaging |
Het |
Lgr4 |
T |
A |
2: 109,842,132 (GRCm39) |
F706I |
possibly damaging |
Het |
Lox |
A |
T |
18: 52,661,955 (GRCm39) |
S149R |
probably benign |
Het |
Lrrc66 |
T |
G |
5: 73,768,287 (GRCm39) |
D218A |
probably benign |
Het |
Luc7l |
C |
T |
17: 26,485,296 (GRCm39) |
R99W |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,385,968 (GRCm39) |
V327A |
probably benign |
Het |
Mthfd1l |
G |
T |
10: 3,997,976 (GRCm39) |
|
probably null |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,358 (GRCm39) |
|
probably null |
Het |
Or5b109 |
A |
T |
19: 13,212,424 (GRCm39) |
D270V |
possibly damaging |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pgf |
C |
T |
12: 85,216,159 (GRCm39) |
R153K |
probably benign |
Het |
Pramel12 |
A |
T |
4: 143,144,170 (GRCm39) |
Q172L |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,861,835 (GRCm39) |
V485A |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,473,028 (GRCm39) |
T705A |
probably damaging |
Het |
Rflna |
A |
C |
5: 125,080,774 (GRCm39) |
D48A |
possibly damaging |
Het |
Rnf148 |
A |
T |
6: 23,654,456 (GRCm39) |
I180N |
probably damaging |
Het |
Rtn4 |
T |
A |
11: 29,656,475 (GRCm39) |
S94T |
probably damaging |
Het |
Scn11a |
G |
A |
9: 119,640,226 (GRCm39) |
T223I |
probably benign |
Het |
Scube2 |
T |
A |
7: 109,436,327 (GRCm39) |
|
probably benign |
Het |
Septin14 |
T |
C |
5: 129,774,972 (GRCm39) |
I68V |
probably benign |
Het |
Sil1 |
A |
T |
18: 35,399,910 (GRCm39) |
L365Q |
possibly damaging |
Het |
Sirt1 |
A |
G |
10: 63,157,515 (GRCm39) |
|
probably benign |
Het |
Slc9a1 |
T |
C |
4: 133,147,810 (GRCm39) |
|
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,687,336 (GRCm39) |
T355A |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,141,110 (GRCm39) |
I6074T |
probably damaging |
Het |
Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
Tsc22d4 |
T |
C |
5: 137,766,283 (GRCm39) |
S450P |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Uncx |
G |
T |
5: 139,529,942 (GRCm39) |
C65F |
probably damaging |
Het |
Vmn1r87 |
A |
T |
7: 12,865,756 (GRCm39) |
M177K |
probably damaging |
Het |
Vmn2r56 |
A |
T |
7: 12,444,235 (GRCm39) |
C466S |
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,925,466 (GRCm39) |
P1831S |
probably damaging |
Het |
Zfp820 |
T |
C |
17: 22,037,901 (GRCm39) |
S476G |
probably benign |
Het |
|
Other mutations in Tshr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00647:Tshr
|
APN |
12 |
91,504,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01503:Tshr
|
APN |
12 |
91,478,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01730:Tshr
|
APN |
12 |
91,486,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02109:Tshr
|
APN |
12 |
91,504,766 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02199:Tshr
|
APN |
12 |
91,505,057 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02439:Tshr
|
APN |
12 |
91,504,321 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02696:Tshr
|
APN |
12 |
91,460,103 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03170:Tshr
|
APN |
12 |
91,504,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03208:Tshr
|
APN |
12 |
91,500,716 (GRCm39) |
missense |
probably damaging |
1.00 |
freckle
|
UTSW |
12 |
91,505,000 (GRCm39) |
nonsense |
probably null |
|
R0067_Tshr_655
|
UTSW |
12 |
91,472,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R0017:Tshr
|
UTSW |
12 |
91,504,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0017:Tshr
|
UTSW |
12 |
91,504,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0067:Tshr
|
UTSW |
12 |
91,472,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R0419:Tshr
|
UTSW |
12 |
91,504,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R0724:Tshr
|
UTSW |
12 |
91,505,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Tshr
|
UTSW |
12 |
91,504,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R1188:Tshr
|
UTSW |
12 |
91,468,942 (GRCm39) |
missense |
probably benign |
0.00 |
R1548:Tshr
|
UTSW |
12 |
91,500,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R1677:Tshr
|
UTSW |
12 |
91,504,115 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1808:Tshr
|
UTSW |
12 |
91,504,090 (GRCm39) |
missense |
probably benign |
0.00 |
R1934:Tshr
|
UTSW |
12 |
91,503,955 (GRCm39) |
missense |
probably damaging |
0.99 |
R3980:Tshr
|
UTSW |
12 |
91,504,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4008:Tshr
|
UTSW |
12 |
91,504,268 (GRCm39) |
missense |
probably benign |
0.21 |
R4828:Tshr
|
UTSW |
12 |
91,504,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R4903:Tshr
|
UTSW |
12 |
91,367,962 (GRCm39) |
missense |
probably benign |
0.09 |
R4958:Tshr
|
UTSW |
12 |
91,504,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R5528:Tshr
|
UTSW |
12 |
91,503,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R5949:Tshr
|
UTSW |
12 |
91,503,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R6136:Tshr
|
UTSW |
12 |
91,505,008 (GRCm39) |
missense |
probably benign |
0.34 |
R6147:Tshr
|
UTSW |
12 |
91,505,009 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6454:Tshr
|
UTSW |
12 |
91,505,323 (GRCm39) |
missense |
probably benign |
0.33 |
R6572:Tshr
|
UTSW |
12 |
91,505,134 (GRCm39) |
missense |
probably benign |
0.29 |
R6884:Tshr
|
UTSW |
12 |
91,504,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Tshr
|
UTSW |
12 |
91,500,731 (GRCm39) |
missense |
probably damaging |
0.97 |
R7403:Tshr
|
UTSW |
12 |
91,464,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R7691:Tshr
|
UTSW |
12 |
91,464,515 (GRCm39) |
missense |
probably benign |
0.00 |
R7741:Tshr
|
UTSW |
12 |
91,500,743 (GRCm39) |
nonsense |
probably null |
|
R7769:Tshr
|
UTSW |
12 |
91,505,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R7784:Tshr
|
UTSW |
12 |
91,472,079 (GRCm39) |
missense |
probably benign |
0.02 |
R7934:Tshr
|
UTSW |
12 |
91,478,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8060:Tshr
|
UTSW |
12 |
91,505,134 (GRCm39) |
missense |
probably benign |
0.12 |
R8168:Tshr
|
UTSW |
12 |
91,478,739 (GRCm39) |
missense |
probably benign |
0.19 |
R8552:Tshr
|
UTSW |
12 |
91,504,059 (GRCm39) |
missense |
probably benign |
0.00 |
R8762:Tshr
|
UTSW |
12 |
91,504,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R8917:Tshr
|
UTSW |
12 |
91,468,829 (GRCm39) |
intron |
probably benign |
|
R8918:Tshr
|
UTSW |
12 |
91,504,211 (GRCm39) |
missense |
probably benign |
0.00 |
R8945:Tshr
|
UTSW |
12 |
91,504,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R9002:Tshr
|
UTSW |
12 |
91,504,548 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9056:Tshr
|
UTSW |
12 |
91,474,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R9122:Tshr
|
UTSW |
12 |
91,478,737 (GRCm39) |
missense |
probably benign |
0.19 |
R9126:Tshr
|
UTSW |
12 |
91,503,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R9282:Tshr
|
UTSW |
12 |
91,474,518 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9488:Tshr
|
UTSW |
12 |
91,504,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R9630:Tshr
|
UTSW |
12 |
91,504,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R9632:Tshr
|
UTSW |
12 |
91,504,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R9687:Tshr
|
UTSW |
12 |
91,504,439 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tshr
|
UTSW |
12 |
91,505,265 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGTCAGCATCTGCCTGCCAATG -3'
(R):5'- TCACTGTGACTAGCGTAGCCTTTCC -3'
Sequencing Primer
(F):5'- TCTGCCTGCCAATGGACAC -3'
(R):5'- GGAGTTTCCAAGCAGTTCATAG -3'
|
Posted On |
2013-07-30 |